• Gene id: 1727

Gene Summary

• Gene Symbol: CYB5R3   Gene   UCSC   Ensembl
• Aliases: B5R, DIA1
• Gene name: cytochrome b5 reductase 3
• Alternate names: NADH-cytochrome b5 reductase 3, NADH-cytochrome b5 reductase 3 membrane-bound form, NADH-cytochrome b5 reductase 3 soluble form, diaphorase-1, mutant NADH-cytochrome b5 reductase,
• Gene location: 22q13.2 (42649391: 42617839)     Exons: 12     NC_000022.11
• Gene summary(Entrez): This gene encodes cytochrome b5 reductase, which includes a membrane-bound form in somatic cells (anchored in the endoplasmic reticulum, mitochondrial and other membranes) and a soluble form in erythrocytes. The membrane-bound form exists mainly on the cy
• OMIM: 613213

Protein Summary

• Protein general information: P00387  
  • Name: NADH cytochrome b5 reductase 3 (B5R) (Cytochrome b5 reductase) (EC 1.6.2.2) (Diaphorase 1) [Cleaved into: NADH cytochrome b5 reductase 3 membrane bound form; NADH cytochrome b5 reductase 3 soluble form]
  • Length: 301  
  • Mass: 34235
  • Tissue specificity: Isoform 2 is expressed at late stages of erythroid maturation.
• Sequence:

  MGAQLSTLGHMVLFPVWFLYSLLMKLFQRSTPAITLESPDIKYPLRLIDREIISHDTRRFRFALPSPQHILGLPV
  GQHIYLSARIDGNLVVRPYTPISSDDDKGFVDLVIKVYFKDTHPKFPAGGKMSQYLESMQIGDTIEFRGPSGLLV
  YQGKGKFAIRPDKKSNPIIRTVKSVGMIAGGTGITPMLQVIRAIMKDPDDHTVCHLLFANQTEKDILLRPELEEL
  RNKHSARFKLWYTLDRAPEAWDYGQGFVNEEMIRDHLPPPEEEPLVLMCGPPPMIQYACLPNLDHVGHPTERCFV
  F

• Structural information:
  • Protein Domains: (40..15-)
    (/note="FAD-binding-FR-type)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00716"-)
  • Interpro: IPR001834  IPR008333  IPR017927  IPR001709  IPR039261   IPR001433  IPR017938  
  • Prosite: PS51384
  • PDB: 1M91 1UMK
  • PDBsum: 1M91 1UMK
  • DIP: 50463
  • STRING: ENSP00000354468
• Other Databases: GeneCards:  CYB5R3  Malacards:  CYB5R3

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0071949	FAD binding	IBA	molecular function
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0055114	oxidation-reduction process	IEA	biological process
GO:0006695	cholesterol biosynthetic process	IEA	biological process
GO:0016491	oxidoreductase activity	IEA	molecular function
GO:0016126	sterol biosynthetic process	IEA	biological process
GO:0008202	steroid metabolic process	IEA	biological process
GO:0005739	mitochondrion	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0006629	lipid metabolic process	IEA	biological process
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0006694	steroid biosynthetic process	IEA	biological process
GO:0008203	cholesterol metabolic process	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	TAS	molecular function
GO:0005737	cytoplasm	TAS	cellular component
GO:0008015	blood circulation	TAS	biological process
GO:0016020	membrane	TAS	cellular component
GO:0005833	hemoglobin complex	TAS	cellular component
GO:0004128	cytochrome-b5 reductase activity, acting on NAD(P)H	IEA	molecular function
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0005741	mitochondrial outer membrane	TAS	cellular component
GO:0043312	neutrophil degranulation	TAS	biological process
GO:0005576	extracellular region	TAS	cellular component
GO:0006805	xenobiotic metabolic process	TAS	biological process
GO:0019852	L-ascorbic acid metabolic process	TAS	biological process
GO:0035578	azurophil granule lumen	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0050660	flavin adenine dinucleotide binding	IEA	molecular function
GO:0016208	AMP binding	IEA	molecular function
GO:0043531	ADP binding	IEA	molecular function
GO:0051287	NAD binding	IEA	molecular function
GO:0005737	cytoplasm	IEA	cellular component
GO:0005741	mitochondrial outer membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005811	lipid droplet	IDA	cellular component
GO:0005739	mitochondrion	HDA	cellular component
GO:0016020	membrane	HDA	cellular component

KEGG pathways

Pathway id	Pathway name
hsa00520	Amino sugar and nucleotide sugar metabolism

Diseases

Associated diseases	References
Methemoglobinemia	KEGG:H00235
Methemoglobinemia	KEGG:H00235
Estrogen-receptor positive breast cancer	PMID:26351264
Methemoglobinemia	PMID:11295830
Breast cancer	PMID:25225034
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq